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Gabriele Gillessen-Kaesbach (1953-)

Humangenetikerin

Name	Gabriele Gillessen-Kaesbach
Time	1953- (Date of birth and death)
Place	Heinsberg (Geburtsort) Deutschland
Gender	weiblich
Profession	Humangenetikerin (characteristic profession) Genetikerin
Variant	G. Gillessen-Kaesbach Gabriele Gertrud Gillessen-Kaesbach (vollständiger Name) Gabriele Gertrud Gillessen (früherer Name)
Record type	Person
GND-Identifier	1232454796
Record ID	1232454796
Involved in show all The adult phenotype of Schaaf-Yang syndrome Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay Genetics of intellectual disability in consanguineous families Habituelle Aborte : Diagnostik und Therapie entsprechend der S1-Leitlinie Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes Präimplantationsdiagnostik : Erfahrungen aus dem PID-Zentrum Lübeck Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG (S1-Level, AWMF Registry No. 015/050, December 2013) A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) syndrome in humans and mice Glykogenose Typ IV (Andersen) : Klinik, Pathologie und Genetik eines letalen perinatalen Falles Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2 Mutationen im Senataxin-Gen: Ursache für Ataxie, amyotrophe Lateralsklerose oder Tremor Ataxia with Oculomotor Apraxia Type 2: Novel Mutations in Six Patients with Juvenile Age of Onset and Elevated Serum α-Fetoprotein Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome Investigation of Recessive Ataxia Loci in Patients with Young Age of Onset SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome Short stature in children with an apparently normal male phenotype can be caused by 45,X/46,XY mosaicism and is susceptible to growth hormone treatment Das Prader-Labhart-Willi-Syndrom im Säuglingsalter Das Prader-Willi-Syndrom : eine klinisch-genetische Analyse Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13 Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis Untersuchungen zur Bestimmung des freien Cortisols im Serum

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Katalog der Deutschen Nationalbibliothek

Gabriele Gillessen-Kaesbach (1953-)

The adult phenotype of Schaaf-Yang syndrome

Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay

Genetics of intellectual disability in consanguineous families

Habituelle Aborte : Diagnostik und Therapie entsprechend der S1-Leitlinie

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Präimplantationsdiagnostik : Erfahrungen aus dem PID-Zentrum Lübeck

Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG (S1-Level, AWMF Registry No. 015/050, December 2013)

A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

Glykogenose Typ IV (Andersen) : Klinik, Pathologie und Genetik eines letalen perinatalen Falles

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2

Mutationen im Senataxin-Gen: Ursache für Ataxie, amyotrophe Lateralsklerose oder Tremor

Ataxia with Oculomotor Apraxia Type 2: Novel Mutations in Six Patients with Juvenile Age of Onset and Elevated Serum α-Fetoprotein

Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome

Investigation of Recessive Ataxia Loci in Patients with Young Age of Onset

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

Short stature in children with an apparently normal male phenotype can be caused by 45,X/46,XY mosaicism and is susceptible to growth hormone treatment

Das Prader-Labhart-Willi-Syndrom im Säuglingsalter

Das Prader-Willi-Syndrom : eine klinisch-genetische Analyse

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis

Untersuchungen zur Bestimmung des freien Cortisols im Serum